Insulin resistance (including lipodystrophy)

Gene: PIK3R1

Green List (high evidence)

PIK3R1 (phosphoinositide-3-kinase regulatory subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000145675
EnsemblGeneIds (GRCh37): ENSG00000145675
OMIM: 171833, Gene2Phenotype
PIK3R1 is in 17 panels

3 reviews

David Savage (IMS MRL, Uni. Cambridge)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least five variants reported in SHORT syndrome 269880, this phenotype does not include Acanthosis nigricans
Created: 12 Aug 2016, 8:18 a.m.
Comment on mode of pathogenicity: LOF probably is responsible for this phenotype
Created: 12 Aug 2016, 8:14 a.m.
Comment on phenotypes: Also associated with Agammaglobulinemia 7, autosomal recessive 615214 and Immunodeficiency 36 616005
Created: 12 Aug 2016, 6:33 a.m.

Robert Semple (University of Cambridge)

Green List (high evidence)

Around 50% of patients have the p.Arg649Trp mutation. Nearly all others are located in the C terminal SH2 domain, unlike those mutations causing immunodeficiency, suggesting that the pathogenic mechanism is not simple loss of function
Created: 12 Oct 2015, 8:53 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mode of pathogenicity
Other

History Filter Activity

12 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 12/08/2016

12 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Aug 2016, Gel status: 4

Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

Mode of pathogenicity for PIK3R1 was changed to Other - please provide details in the comments

12 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Aug 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

PIK3R1 was added to Insulin resistance (including lipodystrophy)panel. Sources: UKGTN

12 Aug 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PIK3R1 were set to SHORT syndrome 269880

12 Aug 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PIK3R1 were set to 23810382; 23810379; 23810378

12 Oct 2015, Gel status: 0

Added New Source

Robert Semple (University of Cambridge)

PIK3R1 was added to Insulin resistance (including lipodystrophy) panel. Sources: Literature